Why 'bubbly' five-year-old Anna won't be beaten by bone disease

The parents of a five-year-old girl who lives with an ultra-rare disease, hypophosphatasia (HPP), have spoken out about the challenges of looking after their daughter in a bid to raise awareness about the condition.

The parents of a five-year-old girl who lives with an ultra-rare disease, hypophosphatasia (HPP), have spoken out about the challenges of looking after their daughter in a bid to raise awareness about the condition.

Jenna and Alan Turner, from Waringstown, have decided to tell their story ahead of HPP Awareness Week, which runs from October 23 to 27.

Their daughter Anna was born with the rare condition which means her body cannot convert calcium and her bones do not grow properly.

Jenna said: "I'm a nurse, so when Anna was first born, I noticed straight away that something was wrong.

"She was really floppy and her forearms were bowed - they almost pointed upwards. And while it's normal to need to support a baby's head, she had no head or neck control.

"She was also extremely weak and struggled to gain weight in the first few days. Everyone assured me that I was just a first-time mother worrying, or that maybe she wasn't gaining weight because she wasn't breastfeeding properly, but I couldn't shake the fear that something more serious was going on."

After doctors ran a series of tests, the Co Down couple received the terrible news that their daughter had HPP.

The condition is caused by a genetic mutation that keeps the bones from forming correctly. Calcium can also build up in other parts of the body, causing damage to organs.

The disease is progressive and gets worse over time. Most babies with HPP don't survive past their first six months without treatment.

Anna began to develop further complications associated with HPP and was diagnosed with craniosynostosis, a condition when the skull fuses before the brain is fully formed, when she was just six months old.

Surgeons then inserted metal rods into her skull to push the bone back and allow room for her brain to grow. At aged three, Anna needed the surgery again.

Jenna said: "We were constantly living in fear that Anna would develop another complication.

"It definitely impacted our family. Because we live in Northern Ireland, we had to make a five-hour journey by car, plane and train to Sheffield every six months for Anna's shopping list of appointments - growth measurements, ultrasound scans, X-rays, blood tests, eye tests, and visits to the occupational therapist, physio and consultant.

"We also travelled to Oxford every six months, where we relied on the support of a charity for accommodation near the hospital."

Jenna has been unable to return to work as a nurse, with the relentless worry taking a toll on both her and her husband,

Happily, the couple were able to have a second, healthy child.

Jenna said: "Despite the challenges, we've learned how to manage daily life with HPP. We had a second child two years after Anna was born, and thankfully Ella doesn't have the condition.

"Anna is aware that she has something different, but HPP has always been a part of her life and so she couldn't care less that she has an ultra-rare disease."

She added: "We've had to learn a lot about HPP on our own, and even had to explain it to some of our doctors. As a carer, you somewhat become the expert.

"But, if anything, we've learned the most from Anna's strength of character. She's a bubbly, caring and witty little girl. We don't know what the future holds, but we are determined to give Anna the most normal childhood."